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可变剪接的神经遗传学

The neurogenetics of alternative splicing.

作者信息

Vuong Celine K, Black Douglas L, Zheng Sika

机构信息

Molecular Biology Interdepartmental Graduate Program, University of California at Los Angeles, Los Angeles, California 90095, USA.

Department of Microbiology, Immunology, and Molecular Genetics, University of California at Los Angeles, Los Angeles, California 90095, USA.

出版信息

Nat Rev Neurosci. 2016 May;17(5):265-81. doi: 10.1038/nrn.2016.27.

Abstract

Alternative precursor-mRNA splicing is a key mechanism for regulating gene expression in mammals and is controlled by specialized RNA-binding proteins. The misregulation of splicing is implicated in multiple neurological disorders. We describe recent mouse genetic studies of alternative splicing that reveal its critical role in both neuronal development and the function of mature neurons. We discuss the challenges in understanding the extensive genetic programmes controlled by proteins that regulate splicing, both during development and in the adult brain.

摘要

可变前体mRNA剪接是哺乳动物中调节基因表达的关键机制,由专门的RNA结合蛋白控制。剪接失调与多种神经疾病有关。我们描述了最近关于可变剪接的小鼠遗传学研究,这些研究揭示了其在神经元发育和成熟神经元功能中的关键作用。我们讨论了在理解由调节剪接的蛋白质所控制的广泛遗传程序时所面临的挑战,这些程序在发育过程中和成体大脑中均存在。

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本文引用的文献

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Mechanisms and Regulation of Alternative Pre-mRNA Splicing.可变前体mRNA剪接的机制与调控
Annu Rev Biochem. 2015;84:291-323. doi: 10.1146/annurev-biochem-060614-034316. Epub 2015 Mar 12.
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RNA-binding proteins in neurodegeneration: Seq and you shall receive.神经退行性变中的RNA结合蛋白:测序即所得。
Trends Neurosci. 2015 Apr;38(4):226-36. doi: 10.1016/j.tins.2015.02.003. Epub 2015 Mar 9.

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